DES, desmin, 1674

N. diseases: 330; N. variants: 63
Disease: Motor delay ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1553603732
rs1553603732 		1.000 0.160 2 219423784 frameshift variant CCCATCCAGACCTACTC/- delins
CUI: C1854301
Disease: Motor delay
Motor delay 		Mental Disorders 0.700 0